Portal hypertension in doublecortin domain-containing protein 2 (DCDC2)-related neonatal sclerosing cholangitis.

doi:10.1002/jpn3.12414

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Article

Portal hypertension in doublecortin domain-containing protein 2 (DCDC2)-related neonatal sclerosing cholangitis.

Journal of pediatric gastroenterology and nutrition - 1 Jan 2025

Kaur Prabhsaran, Lal Bikrant Bihari, Janakiraman Deepa, Dheivamani Nirmala, Pandey Snehavardhan, Bavdekar Ashish, Shah Aashay, Verma Sanjeev Kumar, Shah Vaibhav, Maria Arjun, Wadhwa Nishant, Singh Sumit Kumar, Sood Vikrant, Khanna Rajeev, Alam Seema

Abstract excerpt

Mutations in doublecortin domain-containing protein 2 (DCDC2) lead to neonatal sclerosing cholangitis (NSC), and portal hypertension (PHTN). The objective of the study was to systematically evaluate PHTN, variceal bleeding, and outcomes of patients with DCDC2-related NSC. The study included children with homozygous or compound heterozygous variants in DCDC2. All 14 children with DCDC2-related NSC had PHTN. Eight...

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Topics

Humans
Hypertension, Portal
Cholangitis, Sclerosing
Male
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Infant

Microtubule-Associated Proteins

Esophageal and Gastric Varices

Gastrointestinal Hemorrhage

Liver Transplantation

Mutation

Source

Open in PubMed

Identifiers

PMID: 39552453
DOI: 10.1002/jpn3.12414

Genes

DCDC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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